Variant report
| Variant | esv3341949 |
|---|---|
| Chromosome Location | chr7:122360479-122360683 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs535013845 | chr7:122360481-122360482 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs139008096 | chr7:122360488-122360489 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs200230327 | chr7:122360525-122360526 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs191992354 | chr7:122360528-122360529 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs185074934 | chr7:122360536-122360537 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs190367092 | chr7:122360538-122360539 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs200133219 | chr7:122360540-122360541 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs556785943 | chr7:122360541-122360542 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs181005181 | chr7:122360549-122360550 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs144882104 | chr7:122360557-122360558 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs116979086 | chr7:122360558-122360559 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs553650886 | chr7:122360565-122360566 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs77706461 | chr7:122360579-122360580 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs574117276 | chr7:122360595-122360596 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs184412522 | chr7:122360614-122360615 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs148534998 | chr7:122360619-122360620 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs565175163 | chr7:122360628-122360629 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs533367100 | chr7:122360629-122360630 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs543758108 | chr7:122360635-122360636 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs562310738 | chr7:122360638-122360639 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs576110875 | chr7:122360640-122360641 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs563644955 | chr7:122360644-122360645 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs529362086 | chr7:122360655-122360656 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs189348722 | chr7:122360661-122360662 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs541540285 | chr7:122360662-122360663 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs565967394 | chr7:122360665-122360666 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs181213295 | chr7:122360674-122360675 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 28 | rs4727948 | chr7:122360681-122360682 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Variant related diseases (count:86)
| Disease | PMID | Source |
|---|---|---|
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Seminomas | 18059402 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Autism | 19415332 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Pleomorphic xanthoastrocytoma | 20730472 | CNVD |
| T-cell lymphomas | 19863542 | CNVD |
| Malaria | 21533027 | CNVD |
| Melanoma | 18172304 | CNVD |
| Renal cell carcinoma | 19461508 | CNVD |
| head and neck squamous cell carcinoma | 19289630 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Autism | 22495311 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Squamous cell cancer | 21044232 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Astrocytoma | 17387387 | CNVD |
| Glioblastoma multiforme | 17387387 | CNVD |
| Low-grade fibromyxoid sarcoma | 0 | CNVD |
| Oligodendroglial tumors | 17285580 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Burkitt''s lymphoma | 18698080 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Shwachman-Diamond syndrome | 22934832 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Cutaneous malignant melanoma | 17690212 | CNVD |
| Leukemia | 17361228 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Peripheral t-cell lymphoma | 19118030 | CNVD |
| Malignant melanoma | 17690212 | CNVD |
| Renal cell carcinoma | 18592004 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| abortions and stillbirths | 19751515 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Non-syndromic sensorineural hearing loss | 21987784 | CNVD |
| Burkitt''s lymphoma | 19759907 | CNVD |
| Myelodysplastic syndrome | 21251322 | CNVD |
| Chronic myeloid leukemia | 21384125 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Medulloblastoma | 16783165 | CNVD |
| Biliary cancer | 19435499 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Ovarian neoplasms | 16753589 | CNVD |
| Prostate cancer | 23792589 | CNVD |
| Adenocarcinoma | 21044232 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Non-small cell lung cancer | 19889201 | CNVD |
| Acute myeloid leukemia | 18000384 | CNVD |
| Esophageal adenocarcinoma | 18820669 | CNVD |
| Metastatic melanoma | 18483359 | CNVD |
| Autism | 18414403 | CNVD |
| Autism | 19401682 | CNVD |
| Autism | 19546859 | CNVD |
| Schizophrenia | 19546859 | CNVD |
| Tourette syndrome | 19546859 | CNVD |
| Melanoma | 19188590 | CNVD |
| Glioblastoma multiforme | 21922591 | CNVD |
| Hepatocellular carcinoma | 16785998 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Breast cancer | 21509527 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Splenic marginal zone lymphoma | 18492102 | CNVD |
| Barrett''s adenocarcinoma | 18663352 | CNVD |
| Acute monocytic leukemia | 16498392 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Acute lymphoblastic leukemia | 21339820 | CNVD |
| Pancreatic cancer | 17952125 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:122359600-122376000 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
| 2 | chr7:122359600-122376200 | Weak transcription | H9 Cell Line | embryonic stem cell |
| 3 | chr7:122359800-122366200 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
| 4 | chr7:122359800-122375000 | Weak transcription | HUES6 Cell Line | embryonic stem cell |
